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Hypoparathyroidism in Children

Chapter

Abstract

This chapter focuses on the rare disorder of hypoparathyroidism in children. It details the clinical features, pathophysiology, and biochemical abnormalities of the many forms seen clinically. Up-to-date information about the genetics of these disorders is provided along with the abnormalities in gene function. The chapter concludes with a summary of current treatment options for children with these disorders.

Keywords

Hypoparathyroidism Ionized calcium Hypocalcemia Parathyroid hormone Distal renal tubular reabsorption Urinary calcium Renal 1 alpha hydroxylase 1,25 Dihydroxy vitamin D Seizures Laryngospasm Cardioversion disturbances Neuromuscular irritability Currently Paresthesias Chvostek sign Trousseau sign Mental retardation Dental hypoplasia Psychological manifestations Radiological signs Metaphysis Basal ganglia Calcifications of basal ganglia FARR syndrome Phosphatemia Hypomagnesemia Embryological development Transcription factors Calcium sensing receptors DiGeorge syndrome Fluorescent in situ hybridization TBX.1 gene Microcephaly Hypertelorism Cleft palate Micrognathia Philtrum Thymic aplasia Immunological disorders Urogenital, skeletal, ocular malformations Behavioral problems Glial cell missing B transcription factor Hypoparathyroidism Deafness Renal dysplasia syndrome Hypoparathyroidism Retardation Dysmorphism Kenny-Caffey syndrome Sanjad–Sakati syndrome Familial hypoparathyroidism X linked length recessive transmission SOX3 Deficiency of PTH production Heart is normal dominant hypocalcemia G protein coupled receptors Activating and inhibiting mutations Pseudo-Bartter syndrome Mutation in PTH gene Mitochondrial disease Kearns–Sayre syndrome Acquired hypoparathyroidism Calcium receptor antibodies APECED syndrome NA LP 5 protein Surgery Maternal hyperparathyroidism and neonatal hypoparathyroidism Iatrogenic causes of hypocalcemia Antiepileptic drugs Ketoconazole Aluminum hydroxide Laxatives Acute pancreatitis Rhabdomyolysis Treatment Increased urinary calcium excretion Nephrocalcinosis Calcium chelators Septic shock Infectious syndromes Chemotherapy Invasive tumors Alfacalcidol Lithiasis Exogenous PTH Teriparatide Osteosarcoma Autosomal dominant hypoparathyroidism Cytochrome P450 

Notes

Acknowledgment

The authors thank Richard Medeiros, Rouen University Hospital Medical Editor, for editing the manuscript.

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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Department of PediatricNational Reference Center for Calcium/Phosphorus metabolic diseasesLimogesFrance
  2. 2.Department of Pediatric EndocrinologyBicêtre-Paris-Sud hospital, French Center of Reference for rare disorders of calcium and phosphate metabolism and INSERM unit U986le Kremlin-BicêtreFrance

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